Incidental Mutation 'R0848:Gtf2a1l'
ID 77460
Institutional Source Beutler Lab
Gene Symbol Gtf2a1l
Ensembl Gene ENSMUSG00000024154
Gene Name general transcription factor IIA, 1-like
Synonyms Gtf2a1lf, 1700011N16Rik, Alf
MMRRC Submission 039027-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.650) question?
Stock # R0848 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 88976088-89022580 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89001657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 171 (V171A)
Ref Sequence ENSEMBL: ENSMUSP00000024970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024970] [ENSMUST00000161481]
AlphaFold Q8R4I4
Predicted Effect probably damaging
Transcript: ENSMUST00000024970
AA Change: V171A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000024970
Gene: ENSMUSG00000024154
AA Change: V171A

DomainStartEndE-ValueType
TFIIA 9 468 6.87e-202 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000161481
AA Change: V124A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124286
Gene: ENSMUSG00000024154
AA Change: V124A

DomainStartEndE-ValueType
Pfam:TFIIA 9 76 3.2e-29 PFAM
Pfam:TFIIA 70 243 3e-13 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of transcription factor IIA (TFIIA) on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,114,984 (GRCm39) H181Q probably damaging Het
Abca13 T A 11: 9,632,011 (GRCm39) L4977* probably null Het
Abca8a T A 11: 109,919,016 (GRCm39) Y1550F probably damaging Het
Actr2 C T 11: 20,022,584 (GRCm39) E296K probably benign Het
Agtpbp1 A T 13: 59,681,753 (GRCm39) probably benign Het
Anks1b A C 10: 89,906,987 (GRCm39) E268A probably damaging Het
C1rl A G 6: 124,485,465 (GRCm39) T279A probably benign Het
C5ar2 T C 7: 15,971,526 (GRCm39) T134A probably benign Het
Cdkl3 G A 11: 51,902,094 (GRCm39) R101Q probably damaging Het
Celsr2 A T 3: 108,321,654 (GRCm39) F386Y probably benign Het
Chd1 C T 17: 15,990,503 (GRCm39) P1685L probably damaging Het
Chrne G T 11: 70,506,239 (GRCm39) H402Q probably benign Het
Clvs1 A G 4: 9,282,003 (GRCm39) D149G possibly damaging Het
Cntnap5b T C 1: 100,182,888 (GRCm39) Y620H probably benign Het
Col6a1 A G 10: 76,549,458 (GRCm39) probably null Het
Cyp2d26 T A 15: 82,674,434 (GRCm39) I483F probably benign Het
Dlx6 C T 6: 6,863,665 (GRCm39) Q96* probably null Het
Dmac2l A T 12: 69,788,584 (GRCm39) H161L probably benign Het
Eif1a T A 18: 46,741,114 (GRCm39) N116K possibly damaging Het
Epb41l5 A T 1: 119,477,684 (GRCm39) C696S probably benign Het
Exoc7 A G 11: 116,186,074 (GRCm39) S376P possibly damaging Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gimap7 T C 6: 48,700,657 (GRCm39) I81T probably damaging Het
Hax1 A G 3: 89,902,940 (GRCm39) S253P probably damaging Het
Hsd3b5 A T 3: 98,526,671 (GRCm39) D258E probably damaging Het
Kcnb1 G T 2: 166,948,187 (GRCm39) F220L probably damaging Het
Kif1a T A 1: 92,947,620 (GRCm39) Y1708F probably damaging Het
Krt14 A T 11: 100,095,090 (GRCm39) I379N probably damaging Het
Lpxn A G 19: 12,781,401 (GRCm39) I40V probably benign Het
Lrp1 C T 10: 127,389,231 (GRCm39) probably null Het
Lyst G A 13: 13,809,515 (GRCm39) R395H probably benign Het
Mindy4 G A 6: 55,295,271 (GRCm39) W737* probably null Het
Mki67 C A 7: 135,302,772 (GRCm39) R754L probably benign Het
Morf4l1 A G 9: 89,982,502 (GRCm39) V144A probably benign Het
Mvb12a T C 8: 71,998,422 (GRCm39) S186P probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Nipal1 A G 5: 72,825,183 (GRCm39) N292S probably damaging Het
Nqo2 T G 13: 34,156,461 (GRCm39) probably null Het
Or14a256 T C 7: 86,264,848 (GRCm39) Y335C probably damaging Het
Or2d3b A G 7: 106,514,200 (GRCm39) K265R probably benign Het
Or5ak24 A T 2: 85,260,365 (GRCm39) N269K probably benign Het
Or6c214 C T 10: 129,591,077 (GRCm39) V81I probably benign Het
Osbpl7 C A 11: 96,951,350 (GRCm39) P507Q probably damaging Het
Pcdhb1 G A 18: 37,400,475 (GRCm39) G809S probably benign Het
Pcm1 T C 8: 41,735,720 (GRCm39) V846A probably damaging Het
Phf3 A G 1: 30,902,253 (GRCm39) L20P probably damaging Het
Pih1d1 A G 7: 44,807,041 (GRCm39) T58A probably damaging Het
Plekhn1 A G 4: 156,308,021 (GRCm39) probably null Het
Plvap A T 8: 71,959,526 (GRCm39) L422Q probably damaging Het
Polq C T 16: 36,882,492 (GRCm39) A1273V probably benign Het
Prelid2 T A 18: 42,068,289 (GRCm39) I51F probably damaging Het
Ptpn18 G A 1: 34,501,783 (GRCm39) D8N probably damaging Het
Ptpra T A 2: 130,360,911 (GRCm39) F190Y probably damaging Het
Pus7l A G 15: 94,438,393 (GRCm39) S151P probably benign Het
Rsph6a G A 7: 18,791,595 (GRCm39) D255N probably benign Het
Serpinb6c A T 13: 34,083,288 (GRCm39) V42D probably damaging Het
Slc7a13 A G 4: 19,818,866 (GRCm39) N22S probably benign Het
Snx5 G A 2: 144,095,726 (GRCm39) R312C probably damaging Het
Stard9 T C 2: 120,526,304 (GRCm39) S854P probably damaging Het
Syne2 AAGAG AAGAGAGAG 12: 76,144,733 (GRCm39) probably null Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Tlr12 A G 4: 128,510,084 (GRCm39) I722T probably benign Het
Tmem101 A T 11: 102,046,692 (GRCm39) M59K possibly damaging Het
Trim34a C T 7: 103,910,331 (GRCm39) R378C probably benign Het
Trim35 T A 14: 66,546,574 (GRCm39) M447K probably benign Het
Trps1 C A 15: 50,524,945 (GRCm39) S704I possibly damaging Het
Vmn1r231 T A 17: 21,110,433 (GRCm39) S161C probably damaging Het
Vps13a A C 19: 16,676,261 (GRCm39) N1237K probably damaging Het
Zfp619 G T 7: 39,185,983 (GRCm39) C671F probably damaging Het
Other mutations in Gtf2a1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Gtf2a1l APN 17 89,001,723 (GRCm39) missense probably damaging 1.00
IGL00928:Gtf2a1l APN 17 89,001,890 (GRCm39) missense probably benign 0.09
IGL00974:Gtf2a1l APN 17 89,022,377 (GRCm39) missense probably damaging 1.00
IGL01024:Gtf2a1l APN 17 88,978,719 (GRCm39) missense probably damaging 1.00
IGL02429:Gtf2a1l APN 17 88,976,141 (GRCm39) start codon destroyed probably null 0.61
IGL02658:Gtf2a1l APN 17 88,976,146 (GRCm39) missense probably benign 0.01
IGL03377:Gtf2a1l APN 17 89,019,021 (GRCm39) missense probably benign 0.03
R0899:Gtf2a1l UTSW 17 88,976,152 (GRCm39) missense
R1435:Gtf2a1l UTSW 17 89,001,743 (GRCm39) missense probably damaging 1.00
R1716:Gtf2a1l UTSW 17 89,002,008 (GRCm39) missense probably benign 0.06
R1861:Gtf2a1l UTSW 17 89,022,382 (GRCm39) missense probably damaging 1.00
R2301:Gtf2a1l UTSW 17 89,018,900 (GRCm39) missense probably benign
R2906:Gtf2a1l UTSW 17 89,002,083 (GRCm39) missense possibly damaging 0.92
R4281:Gtf2a1l UTSW 17 89,019,065 (GRCm39) missense possibly damaging 0.95
R4289:Gtf2a1l UTSW 17 89,001,884 (GRCm39) missense probably damaging 0.98
R4771:Gtf2a1l UTSW 17 88,997,448 (GRCm39) missense probably benign 0.23
R4904:Gtf2a1l UTSW 17 88,997,471 (GRCm39) critical splice donor site probably null
R4941:Gtf2a1l UTSW 17 89,022,350 (GRCm39) missense probably damaging 1.00
R5106:Gtf2a1l UTSW 17 89,002,073 (GRCm39) missense possibly damaging 0.95
R6003:Gtf2a1l UTSW 17 89,001,531 (GRCm39) missense probably damaging 1.00
R6035:Gtf2a1l UTSW 17 89,018,962 (GRCm39) missense probably benign 0.00
R6035:Gtf2a1l UTSW 17 89,018,962 (GRCm39) missense probably benign 0.00
R6128:Gtf2a1l UTSW 17 89,002,086 (GRCm39) missense probably null 0.94
R6246:Gtf2a1l UTSW 17 88,978,975 (GRCm39) missense probably benign 0.09
R6481:Gtf2a1l UTSW 17 89,019,053 (GRCm39) missense probably benign 0.09
R7344:Gtf2a1l UTSW 17 89,001,531 (GRCm39) missense probably damaging 1.00
R7462:Gtf2a1l UTSW 17 89,001,566 (GRCm39) missense possibly damaging 0.77
R8712:Gtf2a1l UTSW 17 89,022,351 (GRCm39) missense probably damaging 1.00
R8849:Gtf2a1l UTSW 17 89,001,566 (GRCm39) missense possibly damaging 0.77
R9178:Gtf2a1l UTSW 17 88,976,152 (GRCm39) missense
R9407:Gtf2a1l UTSW 17 89,001,531 (GRCm39) missense probably damaging 1.00
R9569:Gtf2a1l UTSW 17 89,001,948 (GRCm39) missense probably benign
R9760:Gtf2a1l UTSW 17 89,019,020 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GAGCATACCTGTGGACATCACACAC -3'
(R):5'- ATGCGAAGCCCTACCTTCTCTGAC -3'

Sequencing Primer
(F):5'- acaccacacacacacacac -3'
(R):5'- GTGGAGTCGCATCCATATATACTGTC -3'
Posted On 2013-10-16